Through massive parallelization and miniaturization, the throughput of DNA sequencing has been increased tremendously while the cost of sequencing has been reduced by several orders of magnitude compared to the conventional gel or capillary-based sequencers using the Sanger dideoxy sequencing method. Several other emerging sequencing platforms can potentially increase the throughput and reduce the cost of DNA sequencing even further by another two orders of magnitude, promising to give us the so-called $1000 genome sequencing technology (Rothberg, J. M. and Leamon, J. H., Nat Biotechnol, 26; 1117-1124 (2008); Schloss, J. A., Nat Biotechnol, 26:1113-1115 (2008); Shendure, J. and Ji, H., Nat Biotechnol, 26:1135-1145 (2008)).
The possibility of $1000 genome technologies promises to bring genomics out of the main sequencing centers and into the laboratories of individual investigators. This will dramatically transform biomedical research by enabling comprehensive analysis of genomes, transcriptomes, genetic networks and so on. Despite the great progress that has been made, the $1000 genome technology remains elusive.
The recent progress and the great challenges in genome sequencing technology development have been reported in a series of review articles (Rothberg, J. M. and Leamon, J. H., Nat Biotechnol, 26; 1117-1124 (2008); Schloss, J. A., Nat Biotechnol, 26:1113-1115 (2008); Branton, D. et al., Nat Biotechnol, 26:1146-1153 (2008)).
The invention provides improved methods for sequencing genetic materials, e.g., for medical applications and biomedical research. The disclosed methods can be applied to rapid personalized medicine, genetic diagnosis, pathogen identification, and genome sequencing for any species in the biosphere.